Novel Mutation of Interferon-γ Receptor 1 Gene Presenting as Early Life Mycobacterial Bronchial Disease

Mendelian susceptibility to mycobacterial diseases (MSMD) are a spectrum of inherited disorders characterized by localized or disseminated infections caused by atypical mycobacteria. Interferon-γ receptor 1 (IFNGR1) deficiency was the first identified genetic disorder recognized as MSMD. Mutations i...

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Bibliographic Details
Main Authors: Maria J. Gutierrez MD, Neelu Kalra MD, Alexandra Horwitz MD, Gustavo Nino MD
Format: Article
Language:English
Published: SAGE Publishing 2016-11-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/2324709616675463